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Tgm1 transglutaminase 1, K polypeptide [ Mus musculus (house mouse) ]

Gene ID: 21816, updated on 14-Nov-2024

Summary

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Official Symbol
Tgm1provided by MGI
Official Full Name
transglutaminase 1, K polypeptideprovided by MGI
Primary source
MGI:MGI:98730
See related
Ensembl:ENSMUSG00000022218 AllianceGenome:MGI:98730
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Tgase1; 2310004J08Rik
Summary
Predicted to enable identical protein binding activity and protein-glutamine gamma-glutamyltransferase activity. Acts upstream of or within animal organ morphogenesis. Located in adherens junction. Is expressed in alimentary system; epithelium; and skin. Used to study autosomal recessive congenital ichthyosis 1. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 1. Orthologous to human TGM1 (transglutaminase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in placenta adult (RPKM 22.8), stomach adult (RPKM 19.5) and 11 other tissues See more
Orthologs
human all
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Genomic context

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See Tgm1 in Genome Data Viewer
Location:
14 C3; 14 28.19 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (55937466..55951378, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (55700009..55713921, complement)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene guanosine monophosphate reductase 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:56300752-56300861 Neighboring gene Terf1 (TRF1)-interacting nuclear factor 2 Neighboring gene predicted gene, 25887 Neighboring gene STARR-seq mESC enhancer starr_36777 Neighboring gene Rab geranylgeranyl transferase, a subunit Neighboring gene STARR-positive B cell enhancer ABC_E7317 Neighboring gene STARR-positive B cell enhancer ABC_E2425 Neighboring gene dehydrogenase/reductase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Proteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1. Blumenreich S, et al. J Neurochem, 2024 Jan. PMID 38071490
  2. Transglutaminase 1 stabilizes beta-actin in endothelial cells correlating with a stabilization of intercellular junctions. Baumgartner W, et al. J Vasc Res, 2007. PMID 17337909
  3. Early response as shown by enhancement of transglutaminase 1 expression after cisplatin-induced acute kidney injury. Furukawa K, et al. Arch Biochem Biophys, 2015 Nov 15. PMID 26427353
  4. Transglutaminase activity regulates differentiation, migration and fusion of osteoclasts via affecting actin dynamics. Sun H, et al. J Cell Physiol, 2018 Sep. PMID 29663380
  5. Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. Kuramoto N, et al. J Clin Invest, 2002 Jan. PMID 11805136, Free PMC Article

See all (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Proteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1.
    Title: Proteomics analysis of the brain from a Gaucher disease mouse identifies pathological pathways including a possible role for transglutaminase 1.
  2. Assessment of expression and specific activities of transglutaminases TG1, TG2, and FXIII-A during osteoclastogenesis.
    Title: Assessment of expression and specific activities of transglutaminases TG1, TG2, and FXIII-A during osteoclastogenesis.
  3. characterization of transglutaminase-crosslinked substrates in kidney fibrosis
    Title: Isozyme-specific comprehensive characterization of transglutaminase-crosslinked substrates in kidney fibrosis.
  4. TG activity regulates differentiation, migration and fusion of osteoclasts via affecting actin dynamics and that this may involve contribution from all three TG enzymes.
    Title: Transglutaminase activity regulates differentiation, migration and fusion of osteoclasts via affecting actin dynamics.
  5. Endothelin-2/vasoactive intestinal contractor via ROCK regulates transglutaminase 1 on differentiation of mouse keratinocytes.
    Title: Endothelin-2/vasoactive intestinal contractor via ROCK regulates transglutaminase 1 on differentiation of mouse keratinocytes.
  6. results suggest ADAM17/EGFR-driven PLCgamma1 and PKC pathways as important promoters of TG1 expression during terminal keratinocyte differentiation.
    Title: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways.
  7. We also reveal that TGM1 modulates lung epithelial junction protein expression, suggesting a potentially protective role for hypoxia-induced TGM1 in pulmonary disease.
    Title: HIF-1-Dependent TGM1 Expression is Associated with Maintenance of Airway Epithelial Junction Proteins.
  8. Characterization of TGM2 and TGM1-TGM2 double knock-out mouse epidermis showed that unlike TGM2, TGM1 is indispensable for skin formation.
    Title: Characterization of TG2 and TG1-TG2 double knock-out mouse epidermis.
  9. that the up-regulation of molecular signatures for antimicrobial and innate defense responses is characteristic of skin with a transglutaminase 1 deficiency.
    Title: Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency.
  10. Before the appearance of acute renal failure, which is apparent by morphological damage in the kidney and increases in blood creatinine levels, both the expression level and activity of TG1 rapidly increased mainly at the proximal tubule.
    Title: Early response as shown by enhancement of transglutaminase 1 expression after cisplatin-induced acute kidney injury.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (2)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein-glutamine gamma-glutamyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-glutamine gamma-glutamyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein-glutamine gamma-glutamyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within animal organ morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in keratinization IEA
Inferred from Electronic Annotation
more info
  
involved_in keratinocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in keratinocyte differentiation ISO
Inferred from Sequence Orthology
more info
  
involved_in peptide cross-linking ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cell cycle ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of keratinocyte proliferation ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of keratinocyte proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within protein metabolic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in adherens junction IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
protein-glutamine gamma-glutamyltransferase K
Names
K polypeptide
TG(K)
TGK
TGase K
TGase-1
epidermal TGase
protein-glutamine-gamma-glutamyltransferase
transglutaminase K
transglutaminase type 1
transglutaminase-1
NP_001155186.1
NP_001155187.1
NP_064368.3
XP_006518871.1
XP_006518872.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001161714.1 → NP_001155186.1  protein-glutamine gamma-glutamyltransferase K

    See identical proteins and their annotated locations for NP_001155186.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AF186373, BX639142, BY779293
    Consensus CDS
    CCDS36932.1
    UniProtKB/Swiss-Prot
    Q8R0T9, Q9JLF6
    UniProtKB/TrEMBL
    A0A0R4J293
    Related
    ENSMUSP00000137642.2, ENSMUST00000178034.9
    Conserved Domains (3) summary
    smart00460
    Location:370 → 461
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:109 → 226
    Transglut_N; Transglutaminase family
    pfam00927
    Location:690 → 787
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  2. NM_001161715.1 → NP_001155187.1  protein-glutamine gamma-glutamyltransferase K

    See identical proteins and their annotated locations for NP_001155187.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AF186373, BX639142, BY779293
    Consensus CDS
    CCDS36932.1
    UniProtKB/Swiss-Prot
    Q8R0T9, Q9JLF6
    UniProtKB/TrEMBL
    A0A0R4J293
    Related
    ENSMUSP00000128090.2, ENSMUST00000168729.8
    Conserved Domains (3) summary
    smart00460
    Location:370 → 461
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:109 → 226
    Transglut_N; Transglutaminase family
    pfam00927
    Location:690 → 787
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  3. NM_019984.3 → NP_064368.3  protein-glutamine gamma-glutamyltransferase K

    See identical proteins and their annotated locations for NP_064368.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AF186373, BX639142, CT025679
    Consensus CDS
    CCDS36932.1
    UniProtKB/Swiss-Prot
    Q8R0T9, Q9JLF6
    UniProtKB/TrEMBL
    A0A0R4J293
    Related
    ENSMUSP00000002389.8, ENSMUST00000002389.9
    Conserved Domains (3) summary
    smart00460
    Location:370 → 461
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:109 → 226
    Transglut_N; Transglutaminase family
    pfam00927
    Location:690 → 787
    Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    55937466..55951378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006518809.5 → XP_006518872.1  protein-glutamine gamma-glutamyltransferase K isoform X1

    See identical proteins and their annotated locations for XP_006518872.1

    UniProtKB/Swiss-Prot
    Q8R0T9, Q9JLF6
    UniProtKB/TrEMBL
    A0A0R4J293
    Conserved Domains (3) summary
    smart00460
    Location:370 → 461
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:109 → 226
    Transglut_N; Transglutaminase family
    pfam00927
    Location:690 → 787
    Transglut_C; Transglutaminase family, C-terminal ig like domain

  2. XM_006518808.3 → XP_006518871.1  protein-glutamine gamma-glutamyltransferase K isoform X1

    See identical proteins and their annotated locations for XP_006518871.1

    UniProtKB/Swiss-Prot
    Q8R0T9, Q9JLF6
    UniProtKB/TrEMBL
    A0A0R4J293
    Conserved Domains (3) summary
    smart00460
    Location:370 → 461
    TGc; Transglutaminase/protease-like homologues
    pfam00868
    Location:109 → 226
    Transglut_N; Transglutaminase family
    pfam00927
    Location:690 → 787
    Transglut_C; Transglutaminase family, C-terminal ig like domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JLF6.2 GenPept UniProtKB/Swiss-Prot:Q9JLF6

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